NTRK1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1505

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 667736	NM_003975.4(SH2D2A):c.124-343A>G	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221990	NM_003975.4(SH2D2A):c.123+253del	NTRK1, SH2D2A	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3051205	NM_003975.4(SH2D2A):c.123+185T>C	NTRK1, SH2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	NTRK1-related disorder	GLikely benign
Select item 380853	NM_003975.4(SH2D2A):c.123+181C>T	SH2D2A, NTRK1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1200010	NM_003975.4(SH2D2A):c.123+65A>G	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225268	NM_003975.4(SH2D2A):c.123+35del	NTRK1, SH2D2A	Deletion (intron variant)	not provided	GBenign
Select item 667767	NM_003975.4(SH2D2A):c.123+27T>C	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign
Select item 667768	NM_003975.4(SH2D2A):c.123+19C>T	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign
Select item 1176211	NM_003975.4(SH2D2A):c.111G>C (p.Leu37=)	NTRK1, SH2D2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176836	NM_003975.4(SH2D2A):c.84C>T (p.Asp28=)	NTRK1, SH2D2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2394768	NM_014215.3(INSRR):c.3880G>T (p.Gly1294Cys)	INSRR, NTRK1 (G1294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531847	NM_014215.3(INSRR):c.3857G>A (p.Arg1286Lys)	INSRR, NTRK1 (R1286K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369705	NM_014215.3(INSRR):c.3805C>T (p.Arg1269Trp)	INSRR, NTRK1 (R1269W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1675386	NM_014215.3(INSRR):c.3789G>A (p.Pro1263=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 801559	NM_014215.3(INSRR):c.3761T>C (p.Phe1254Ser)	INSRR, NTRK1 (F1254S)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2412160	NM_014215.3(INSRR):c.3751C>T (p.Arg1251Trp)	INSRR, NTRK1 (R1251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214436	NM_014215.3(INSRR):c.3748C>A (p.Leu1250Met)	INSRR, NTRK1 (L1250M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333772	NM_014215.3(INSRR):c.3736A>T (p.Ile1246Leu)	INSRR, NTRK1 (I1246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109954	NM_014215.3(INSRR):c.3719C>T (p.Thr1240Ile)	INSRR, NTRK1 (T1240I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775609	NM_014215.3(INSRR):c.3663-5A>G	INSRR, NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2397141	NM_014215.3(INSRR):c.3625G>A (p.Gly1209Arg)	INSRR, NTRK1 (G1209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496081	NM_014215.3(INSRR):c.3601G>T (p.Val1201Leu)	INSRR, NTRK1 (V1201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528732	NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu)	INSRR, NTRK1 (V1180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355379	NM_014215.3(INSRR):c.3538G>A (p.Val1180Met)	INSRR, NTRK1 (V1180M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 584589	NM_014215.3(INSRR):c.3537dup (p.Val1180fs)	INSRR, NTRK1 (V1180fs)	Duplication (frameshift variant +1 more)	Familial medullary thyroid carcinoma	GUncertain significance
Select item 727965	NM_014215.3(INSRR):c.3513C>T (p.Thr1171=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2454496	NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys)	INSRR, NTRK1 (E1162K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025245	NM_014215.3(INSRR):c.3480C>T (p.Ala1160=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2244580	NM_014215.3(INSRR):c.3470G>T (p.Arg1157Leu)	INSRR, NTRK1 (R1157L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1215621	NM_014215.3(INSRR):c.3397+98G>C	INSRR, NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064661	NM_014215.3(INSRR):c.3397+28C>T	INSRR, NTRK1 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2428518	NM_014215.3(INSRR):c.3397+23G>A	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 555070	NM_014215.3(INSRR):c.3397+17G>T	INSRR, NTRK1 (C8*)	Single nucleotide variant (nonsense +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 584590	NM_014215.3(INSRR):c.3397+9G>A	INSRR, NTRK1 (P11L)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 552224	NM_014215.3(INSRR):c.3397+8G>T	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 584591	NM_014215.3(INSRR):c.3397+4del	INSRR, NTRK1 (V13fs)	Deletion (frameshift variant +1 more)	Familial medullary thyroid carcinoma	GUncertain significance
Select item 3109952	NM_014215.3(INSRR):c.3392T>A (p.Ile1131Asn)	INSRR, NTRK1 (I16F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1310344	NM_014215.3(INSRR):c.3366G>C (p.Met1122Ile)	INSRR, NTRK1 (M1122I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639464	NM_014215.3(INSRR):c.3339C>T (p.His1113=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 584592	NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)	INSRR, NTRK1 (A40E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2271432	NM_014215.3(INSRR):c.3286G>A (p.Ala1096Thr)	INSRR, NTRK1 (A1096T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176837	NM_014215.3(INSRR):c.3265T>C (p.Leu1089=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2555446	NM_014215.3(INSRR):c.3243C>A (p.Asn1081Lys)	INSRR, NTRK1 (N1081K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1187999	NM_014215.3(INSRR):c.3237+45C>G	INSRR, NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2591740	NM_014215.3(INSRR):c.3190C>T (p.Arg1064Cys)	INSRR, NTRK1 (R1064C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285304	NM_014215.3(INSRR):c.3188C>A (p.Thr1063Asn)	INSRR, NTRK1 (T1063N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556809	NM_014215.3(INSRR):c.3158A>G (p.Gln1053Arg)	INSRR, NTRK1 (Q1053R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109951	NM_014215.3(INSRR):c.3088G>A (p.Glu1030Lys)	INSRR, NTRK1 (E1030K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639465	NM_014215.3(INSRR):c.3042G>A (p.Thr1014=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3109950	NM_014215.3(INSRR):c.3028G>C (p.Val1010Leu)	INSRR, NTRK1 (V1010L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530168	NM_014215.3(INSRR):c.3028G>A (p.Val1010Met)	INSRR, NTRK1 (V1010M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109949	NM_014215.3(INSRR):c.2957G>A (p.Gly986Asp)	INSRR, NTRK1 (G986D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109948	NM_014215.3(INSRR):c.2947C>T (p.Arg983Trp)	INSRR, NTRK1 (R983W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596269	NM_014215.3(INSRR):c.2905C>A (p.Pro969Thr)	INSRR, NTRK1 (P969T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222040	NM_014215.3(INSRR):c.2887G>A (p.Ala963Thr)	INSRR, NTRK1 (A963T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109947	NM_014215.3(INSRR):c.2876A>G (p.Glu959Gly)	INSRR, NTRK1 (E959G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109946	NM_014215.3(INSRR):c.2860G>A (p.Ala954Thr)	INSRR, NTRK1 (A954T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1176838	NM_014215.3(INSRR):c.2796G>A (p.Thr932=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 801560	NM_014215.3(INSRR):c.2783C>T (p.Pro928Leu)	INSRR, NTRK1 (P928L)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GBenign
Select item 3109945	NM_014215.3(INSRR):c.2749G>A (p.Ala917Thr)	INSRR, NTRK1 (A917T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207439	NM_014215.3(INSRR):c.2709C>G (p.Asp903Glu)	INSRR, NTRK1 (D903E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1694531	NM_014215.3(INSRR):c.2700T>G (p.Ser900=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2521187	NM_014215.3(INSRR):c.2668G>A (p.Val890Ile)	INSRR, NTRK1 (V890I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287378	NM_014215.3(INSRR):c.2659T>G (p.Ser887Ala)	INSRR, NTRK1 (S887A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356561	NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu)	INSRR, NTRK1 (P842L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613472	NM_014215.3(INSRR):c.2515C>A (p.Pro839Thr)	INSRR, NTRK1 (P839T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292757	NM_014215.3(INSRR):c.2504G>T (p.Arg835Leu)	INSRR, NTRK1 (R835L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327447	NM_014215.3(INSRR):c.2503C>T (p.Arg835Cys)	INSRR, NTRK1 (R835C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276091	NM_014215.3(INSRR):c.2477C>T (p.Ala826Val)	INSRR, NTRK1 (A826V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264499	NM_014215.3(INSRR):c.2468C>T (p.Ala823Val)	INSRR, NTRK1 (A823V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334996	NM_014215.3(INSRR):c.2454T>A (p.Ile818=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2309279	NM_014215.3(INSRR):c.2423G>T (p.Arg808Leu)	INSRR, NTRK1 (R808L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216154	NM_014215.3(INSRR):c.2362C>A (p.His788Asn)	INSRR, NTRK1 (H788N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791814	NM_014215.3(INSRR):c.2289G>A (p.Gln763=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1334997	NM_014215.3(INSRR):c.2250C>T (p.Pro750=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3109944	NM_014215.3(INSRR):c.2224G>A (p.Gly742Arg)	INSRR, NTRK1 (G742R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109942	NM_014215.3(INSRR):c.2173A>C (p.Ile725Leu)	INSRR, NTRK1 (I725L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604067	NM_014215.3(INSRR):c.2171C>T (p.Pro724Leu)	INSRR, NTRK1 (P724L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386433	NM_014215.3(INSRR):c.2086G>A (p.Gly696Ser)	INSRR, NTRK1 (G696S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457846	NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg)	INSRR, NTRK1 (C688R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273094	NM_014215.3(INSRR):c.1979G>A (p.Gly660Asp)	INSRR, NTRK1 (G660D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280576	NM_014215.3(INSRR):c.1948G>T (p.Asp650Tyr)	INSRR, NTRK1 (D650Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561892	NM_014215.3(INSRR):c.1945G>A (p.Gly649Ser)	INSRR, NTRK1 (G649S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524062	NM_014215.3(INSRR):c.1891C>A (p.Arg631Ser)	INSRR, NTRK1 (R631S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354542	NM_014215.3(INSRR):c.1883C>G (p.Pro628Arg)	INSRR, NTRK1 (P628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735501	NM_014215.3(INSRR):c.1811-5C>T	NTRK1, INSRR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376176	NM_014215.3(INSRR):c.1796G>A (p.Arg599Gln)	INSRR, NTRK1 (R599Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512195	NM_014215.3(INSRR):c.1786G>A (p.Val596Ile)	INSRR, NTRK1 (V596I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1176839	NM_014215.3(INSRR):c.1785C>T (p.Ile595=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2206476	NM_014215.3(INSRR):c.1736C>G (p.Thr579Arg)	INSRR, NTRK1 (T579R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 801561	NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys)	INSRR, NTRK1 (R554C)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +1 more	GLikely benign
Select item 3109940	NM_014215.3(INSRR):c.1390G>C (p.Gly464Arg)	INSRR, NTRK1 (G464R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400951	NM_014215.3(INSRR):c.1388G>T (p.Arg463Leu)	INSRR, NTRK1 (R463L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731064	NM_014215.3(INSRR):c.1281C>G (p.Ser427=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3109939	NM_014215.3(INSRR):c.1216G>A (p.Ala406Thr)	INSRR, NTRK1 (A406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1675387	NM_014215.3(INSRR):c.1215C>T (p.Asp405=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2228208	NM_014215.3(INSRR):c.1141T>C (p.Phe381Leu)	INSRR, NTRK1 (F381L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712088	NM_014215.3(INSRR):c.1113C>T (p.Ser371=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

<< First< Prev

Page of 16